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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 3
1990 7
1991 7
1992 9
1993 3
1994 8
1995 5
1996 6
1997 7
1998 7
1999 5
2000 9
2001 9
2002 5
2003 6
2004 9
2005 12
2006 13
2007 19
2008 6
2009 6
2010 9
2011 11
2012 9
2013 6
2014 5
2015 3
2016 1
2024 0

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196 results

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Page 1
Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes.
Edmunds RC, Su B, Balhoff JP, Eames BF, Dahdul WM, Lapp H, Lundberg JG, Vision TJ, Dunham RA, Mabee PM, Westerfield M. Edmunds RC, et al. Mol Biol Evol. 2016 Jan;33(1):13-24. doi: 10.1093/molbev/msv223. Epub 2015 Oct 24. Mol Biol Evol. 2016. PMID: 26500251 Free PMC article.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Elsayed SM, et al. Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23. Hum Mol Genet. 2015. PMID: 25616960 Free PMC article.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
196 results